Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATA others(7): Show GTGTGATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01952.hp1 others(1): Show HG00738.hp1 HG01074.hp1 HG01952.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0002c0013 a0001c0002 a0001c0014 a0002c0013	a0001c0002t0003 a0001c0014t0003 a0002c0013t0003 a0001c0002t0003 a0001c0014t0003 a0002c0013t0003	a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0014t0003g0004 others(1): Show a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0014t0003g0004 a0002c0013t0003g0006	4	236	0.0170	14	c.-51 others(31): Show c.-51+1838_-51+1839insATATATATATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 HG03927.hp2 HG01515.hp1 HG01884.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009	a0001c0002t0001g0165 a0001c0003t0001g0166 a0001c0003t0009g0214 a0001c0002t0001g0165 a0001c0003t0001g0166 a0001c0003t0009g0214	3	236	0.0127	14	c.-51 others(31): Show c.-51+1821_-51+1834dupATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP2_chr1_177165958_177287422	177200293	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	252	0.0040	14	c.-77 others(33): Show c.-77+28577_-77+28590dupAAAAAAAAAAAAAA	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190229645	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03927.hp1 NA18939.hp1 others(3): Show HG02630.hp1 HG03927.hp1 NA18939.hp1 NA18944.hp2 NA18979.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0081 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0147 a0001c0001t0002g0209 a0001c0001t0002g0210	6	240	0.0250	14	c.725 others(31): Show c.725-3341_725-3328dupGTGTGTGTGTGTGT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	5/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG02132.hp1 others(6): Show HG01891.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp2 HG02809.hp2 NA18612.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0160 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0002g0215 a0001c0001t0002g0229 a0001c0001t0002g0234 a0003c0003t0001g0177	9	240	0.0375	14	c.427 others(31): Show c.427+4459_427+4472dupTATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTTTATAT others(7): Show TTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG06807.hp2 HG02735.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0152 a0001c0001t0001g0116 a0001c0001t0001g0152	2	240	0.0083	14	c.427 others(31): Show c.427+4472_427+4473insTATATATATATAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301204	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	240	0.0042	14	c.237 others(33): Show c.237-19468_237-19455dupATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301210	T T	TATATACA others(7): Show TATATACACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00741.hp1 others(32): Show HG00408.hp1 HG00639.hp1 HG00741.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01943.hp2 HG02040.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02965.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03927.hp1 HG04204.hp1 NA18939.hp1 NA18944.hp2 NA18948.hp2 NA18957.hp2 NA18979.hp1 NA18981.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19054.hp2 NA19077.hp1 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 others(32): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0009g0201	35	240	0.1458	14	c.237 others(33): Show c.237-19461_237-19460insGTATGTGTGTATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301212	T T	TATATACA others(7): Show TATATACACACATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02738.hp2 HG00741.hp2 HG01243.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0001g0133	3	240	0.0125	14	c.237 others(33): Show c.237-19463_237-19462insGTATGTGTGTATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190336840	T T	TCCTCCCT others(7): Show TCCTCCCTCCTTCCG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	240	0.0042	14	c.237 others(33): Show c.237-55091_237-55090insCGGAAGGAGGGAGG	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190365806	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	240	0.0042	14	c.237 others(33): Show c.237-84070_237-84057dupTATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190365806	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	240	0.0042	14	c.237 others(33): Show c.237-84057_237-84056insTATATATATATACA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18961.hp1 NA18971.hp2 others(4): Show HG03540.hp2 NA18961.hp1 NA18971.hp2 NA18993.hp2 NA19004.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0120 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0181	7	240	0.0292	14	c.236 others(33): Show c.236+57928_236+57941dupATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190453203	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp2 NA18970.hp1 HG00609.hp1 HG02027.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	3	240	0.0125	14	c.236 others(31): Show c.236+1438_236+1451dupAAAAAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765379	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	266	0.0038	14	c.209 others(35): Show c.2097+11008_2097+11021dupTATATATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765423	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0015 a0001c0001t0012g0015	1	266	0.0038	14	c.209 others(35): Show c.2097+10977_2097+10978insAAAATATATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765829	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0185	1	266	0.0038	14	c.209 others(35): Show c.2097+10558_2097+10571dupTGTGTGTGTGTGTG	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61791488	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0143 a0001c0001t0036g0143	1	266	0.0038	14	c.147 others(33): Show c.1473+2095_1473+2108dupTTTTTTTTTTTTTT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10111390	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	356	0.0028	14	c.-43 others(25): Show c.-4312_-4311insAAAAAAAAAAAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4284		chr3	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	356	0.0028	14	c.119 others(31): Show c.119-1886_119-1873dupTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRK1_chr3_10110675_10132190	10131702	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	356	0.0028	14	c.54 others(25): Show c.5407_*5408insAAAAAAAAAAAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4513		chr3	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(7): Show GTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG02738.hp2 others(2): Show HG00438.hp1 HG01109.hp1 HG02738.hp2 HG03834.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0265 a0001c0001t0001g0269	5	374	0.0134	14	c.27 others(25): Show c.2712_*2713insTATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATAT others(7): Show GTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0003g0009 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0003g0009	3	374	0.0080	14	c.27 others(25): Show c.2712_*2713insTGTATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	374	0.0027	14	c.27 others(25): Show c.2712_*2713insTGTGTGTATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	374	0.0027	14	c.27 others(25): Show c.2712_*2713insTGTGTGTGTATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873784	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA19063.hp2 NA18969.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	374	0.0054	14	c.33 others(25): Show c.3307_*3308insAAAAAAAAAAAAAA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1822		chr14	TogoVar
BRMS1_chr11_66332339_66350104	66347679	C C	CCCGCCCG others(7): Show CCCGCCCGCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	424	0.0024	14	c.-27 others(25): Show c.-2716_-2715insCGGGCGGCGGGCGG	BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding		2576		chr11	TogoVar
BRSK2_chr11_1384934_1467689	1394683	T T	TCCTGGAG others(7): Show TCCTGGAGATGGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02809.hp2 others(3): Show HG01243.hp1 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0006t0001	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0004g0051 a0001c0001t0043g0050 a0001c0006t0001g0047	6	360	0.0167	14	c.91+ others(29): Show c.91+4320_91+4321insCCCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0038 a0005c0007t0038	a0005c0007t0038g0138 a0005c0007t0038g0138	1	338	0.0030	14	c.10 others(27): Show c.10950_*10963dupTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39203438	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0331 a0003c0004t0014g0331	1	338	0.0030	14	c.436 others(31): Show c.4365-907_4365-894dupAAAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00741.hp2 others(36): Show HG00140.hp2 HG00280.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01255.hp1 HG01891.hp2 HG01943.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp2 NA18960.hp1 NA18970.hp2 NA18980.hp2 NA18981.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0001c0008 a0001c0020 others(4): Show a0001c0001 a0001c0008 a0001c0020 a0003c0004 a0003c0005 a0004c0003 a0011c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0045 a0001c0001t0062 a0001c0001t0068 a0001c0001t0071 a0001c0008t0003 a0001c0020t0003 a0003c0004t0005 a0003c0004t0014 a0003c0005t0007 a0004c0003t0027 a0004c0003t0039 a0011c0026t0004	a0001c0001t0002g0075 a0001c0001t0003g0295 a0001c0001t0003g0297 others(36): Show a0001c0001t0002g0075 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0281 a0001c0001t0004g0287 a0001c0001t0015g0252 a0001c0001t0045g0188 a0001c0001t0062g0280 a0001c0001t0068g0309 a0001c0001t0071g0321 a0001c0008t0003g0316 a0001c0020t0003g0326 a0003c0004t0005g0121 a0003c0004t0005g0124 a0003c0004t0005g0126 a0003c0004t0005g0128 a0003c0004t0005g0129 a0003c0004t0005g0133 a0003c0004t0005g0134 a0003c0004t0005g0135 a0003c0004t0005g0136 a0003c0004t0005g0137 a0003c0004t0014g0328 a0003c0004t0014g0330 a0003c0005t0007g0102 a0003c0005t0007g0105 a0003c0005t0007g0106 a0004c0003t0027g0005 a0004c0003t0039g0017 a0011c0026t0004g0288	39	338	0.1154	14	c.419 others(33): Show c.4198-1191_4198-1178dupGTGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18968.hp1 NA18983.hp1 HG03654.hp2 NA18968.hp1 NA18983.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0066 a0004c0003t0006 a0001c0001t0066 a0004c0003t0006	a0001c0001t0066g0310 a0004c0003t0006g0158 a0004c0003t0006g0159 a0001c0001t0066g0310 a0004c0003t0006g0158 a0004c0003t0006g0159	3	338	0.0089	14	c.248 others(33): Show c.2481+2766_2481+2779dupATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19064.hp2 NA18975.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0047 a0002c0010t0053 a0002c0002t0047 a0002c0010t0053	a0002c0002t0047g0217 a0002c0010t0053g0219 a0002c0002t0047g0217 a0002c0010t0053g0219	2	338	0.0059	14	c.235 others(31): Show c.2350-823_2350-810dupTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39286016	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0319 a0001c0008t0003g0319	1	338	0.0030	14	c.832 others(31): Show c.832-5782_832-5769dupAAAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	8/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	265	0.0038	14	c.283 others(31): Show c.2836-370_2836-369insATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80742408	C C	CCGTATGA others(7): Show CCGTATGAACTTTAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0084 a0001c0001t0033 a0001c0001t0084	a0001c0001t0033g0111 a0001c0001t0084g0100 a0001c0001t0033g0111 a0001c0001t0084g0100	2	265	0.0076	14	c.813 others(31): Show c.813+1623_813+1624insTTAAAGTTCATACG	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	8/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80742409	T T	TGTATGAA others(7): Show TGTATGAACTTTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(142): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0006c0006	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(95): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0133 a0001c0001t0135 a0001c0001t0140 a0001c0001t0143 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0152 a0001c0001t0154 a0001c0001t0158 a0001c0001t0159 a0001c0004t0103 a0001c0004t0108 a0001c0007t0018 a0002c0003t0019 a0006c0006t0109	a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 others(142): Show a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0008g0123 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0010g0078 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0015g0061 a0001c0001t0015g0064 a0001c0001t0015g0065 a0001c0001t0018g0108 a0001c0001t0018g0110 a0001c0001t0020g0136 a0001c0001t0020g0137 a0001c0001t0020g0139 a0001c0001t0021g0141 a0001c0001t0021g0142 a0001c0001t0021g0143 a0001c0001t0022g0156 a0001c0001t0022g0158 a0001c0001t0022g0159 a0001c0001t0025g0020 a0001c0001t0025g0022 a0001c0001t0026g0023 a0001c0001t0026g0024 a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0029g0046 a0001c0001t0029g0047 a0001c0001t0030g0051 a0001c0001t0030g0052 a0001c0001t0031g0092 a0001c0001t0031g0093 a0001c0001t0033g0113 a0001c0001t0036g0176 a0001c0001t0036g0177 a0001c0001t0039g0202 a0001c0001t0039g0203 a0001c0001t0042g0001 a0001c0001t0045g0004 a0001c0001t0047g0006 a0001c0001t0048g0007 a0001c0001t0050g0009 a0001c0001t0051g0010 a0001c0001t0052g0013 a0001c0001t0055g0014 a0001c0001t0056g0016 a0001c0001t0058g0017 a0001c0001t0059g0025 a0001c0001t0060g0026 a0001c0001t0061g0027 a0001c0001t0062g0029 a0001c0001t0064g0034 a0001c0001t0066g0045 a0001c0001t0067g0050 a0001c0001t0071g0054 a0001c0001t0072g0055 a0001c0001t0073g0071 a0001c0001t0074g0063 a0001c0001t0075g0062 a0001c0001t0076g0072 a0001c0001t0077g0073 a0001c0001t0078g0074 a0001c0001t0079g0085 a0001c0001t0080g0077 a0001c0001t0081g0091 a0001c0001t0082g0097 a0001c0001t0083g0096 a0001c0001t0086g0107 a0001c0001t0089g0129 a0001c0001t0090g0130 a0001c0001t0092g0140 a0001c0001t0093g0138 a0001c0001t0098g0147 a0001c0001t0099g0152 a0001c0001t0100g0153 a0001c0001t0101g0157 a0001c0001t0102g0160 a0001c0001t0104g0162 a0001c0001t0106g0164 a0001c0001t0107g0165 a0001c0001t0110g0168 a0001c0001t0111g0169 a0001c0001t0112g0170 a0001c0001t0113g0171 a0001c0001t0114g0172 a0001c0001t0115g0173 a0001c0001t0117g0175 a0001c0001t0118g0178 a0001c0001t0119g0179 a0001c0001t0120g0180 a0001c0001t0121g0181 a0001c0001t0122g0182 a0001c0001t0124g0184 a0001c0001t0125g0185 a0001c0001t0126g0188 a0001c0001t0127g0189 a0001c0001t0129g0191 a0001c0001t0133g0198 a0001c0001t0135g0205 a0001c0001t0140g0217 a0001c0001t0143g0228 a0001c0001t0145g0238 a0001c0001t0146g0249 a0001c0001t0147g0250 a0001c0001t0148g0251 a0001c0001t0152g0255 a0001c0001t0154g0257 a0001c0001t0158g0261 a0001c0001t0159g0262 a0001c0004t0103g0161 a0001c0004t0108g0166 a0001c0007t0018g0109 a0002c0003t0019g0132 a0002c0003t0019g0134 a0006c0006t0109g0167	145	265	0.5472	14	c.813 others(31): Show c.813+1622_813+1623insTTTAAAGTTCATAC	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	8/40			chrX	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01074.hp1 others(35): Show HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03209.hp2 HG03579.hp1 HG03669.hp1 HG04228.hp1 NA18948.hp2 NA18950.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA19057.hp2 NA19058.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0246	38	330	0.1152	14	c.487 others(31): Show c.487-1581_487-1568dupCACACACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570619	C C	CGGAGGGC others(7): Show CGGAGGGCGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG06807.hp1 HG03704.hp2 HG06807.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0004 a0003c0011t0002g0004	2	306	0.0065	14	c.-20 others(25): Show c.-2016_-2015insGGAGGGCGGGTGGG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1976		chr19	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGGG others(7): Show GGGTGGGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG04184.hp1 HG03831.hp2 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0039 a0001c0003t0004g0003 a0001c0003t0004g0039	2	306	0.0065	14	c.-19 others(25): Show c.-1956_-1955insGGTGGGGGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
BSG_chr19_567596_588493	570690	G G	GGCGGAGG others(7): Show GGCGGAGGGGTGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18947.hp1 HG01358.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0141 a0001c0001t0003g0093 a0001c0001t0002g0141 a0001c0001t0003g0093	2	306	0.0065	14	c.-19 others(25): Show c.-1945_-1944insGCGGAGGGGTGGGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1905		chr19	TogoVar
BSG_chr19_567596_588493	571314	A A	AGCCCTTC others(7): Show AGCCCTTCGCGTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0162 a0001c0001t0003g0048 a0001c0001t0003g0162	2	306	0.0065	14	c.-13 others(25): Show c.-1321_-1320insGCCCTTCGCGTTCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1281		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA19005.hp2 NA18955.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0009g0004 a0001c0001t0001g0004 a0001c0001t0009g0004	2	448	0.0045	14	c.-23 others(25): Show c.-2350_-2349insTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01109.hp2 others(19): Show HG00099.hp2 HG00733.hp1 HG01109.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG03942.hp1 NA18906.hp2 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA19043.hp2 NA19065.hp1 NA19079.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0008 a0011 a0020 a0021 a0024	a0001c0001 a0002c0002 a0005c0034 others(6): Show a0001c0001 a0002c0002 a0005c0034 a0006c0005 a0008c0015 a0011c0010 a0020c0030 a0021c0025 a0024c0029	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0002c0002t0001 a0005c0034t0015 a0006c0005t0008 a0008c0015t0002 a0011c0010t0001 a0020c0030t0002 a0021c0025t0028 a0024c0029t0003	a0001c0001t0002g0113 a0001c0001t0002g0139 a0001c0001t0002g0140 others(19): Show a0001c0001t0002g0113 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0003g0118 a0001c0001t0007g0043 a0001c0001t0020g0092 a0002c0002t0001g0079 a0002c0002t0001g0086 a0002c0002t0001g0152 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0180 a0002c0002t0001g0184 a0005c0034t0015g0001 a0006c0005t0008g0069 a0008c0015t0002g0108 a0011c0010t0001g0065 a0011c0010t0001g0165 a0020c0030t0002g0143 a0021c0025t0028g0101 a0024c0029t0003g0049	22	186	0.1183	14	c.225 others(33): Show c.225-11639_225-11626dupGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49617283	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG03834.hp2 HG02615.hp2 HG03453.hp2 HG03834.hp2	a0003 a0003	a0003c0004 a0003c0023 a0003c0004 a0003c0023	a0003c0004t0006 a0003c0023t0014 a0003c0004t0006 a0003c0023t0014	a0003c0004t0006g0030 a0003c0004t0006g0117 a0003c0023t0014g0157 a0003c0004t0006g0030 a0003c0004t0006g0117 a0003c0023t0014g0157	3	186	0.0161	14	c.225 others(31): Show c.225-7669_225-7656dupTATATATATATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49624300	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp2 others(42): Show HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18944.hp2 NA18973.hp1 NA18979.hp1 NA19000.hp1 NA19000.hp2 NA19012.hp2 NA19065.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0013 a0018	a0001c0001 a0002c0002 a0002c0008 others(8): Show a0001c0001 a0002c0002 a0002c0008 a0002c0020 a0004c0006 a0005c0007 a0006c0005 a0008c0015 a0009c0014 a0013c0012 a0018c0031	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0002c0002t0001 a0002c0002t0005 a0002c0008t0001 a0002c0020t0024 a0004c0006t0002 a0005c0007t0033 a0006c0005t0008 a0008c0015t0002 a0009c0014t0009 a0013c0012t0005 a0018c0031t0002	a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0105 others(42): Show a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0003g0118 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0154 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0043 a0001c0001t0012g0116 a0001c0001t0018g0109 a0001c0001t0021g0145 a0001c0001t0026g0146 a0002c0002t0001g0053 a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0005g0074 a0002c0002t0005g0075 a0002c0008t0001g0169 a0002c0008t0001g0173 a0002c0020t0024g0166 a0004c0006t0002g0035 a0004c0006t0002g0036 a0005c0007t0033g0005 a0006c0005t0008g0162 a0008c0015t0002g0103 a0009c0014t0009g0042 a0013c0012t0005g0084 a0018c0031t0002g0091	45	186	0.2419	14	c.225 others(29): Show c.225-671_225-658dupTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02300.hp1 NA18991.hp1 others(1): Show HG00280.hp1 HG02300.hp1 NA18991.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0004c0006t0002	a0001c0001t0002g0151 a0001c0001t0003g0123 a0001c0001t0012g0136 others(1): Show a0001c0001t0002g0151 a0001c0001t0003g0123 a0001c0001t0012g0136 a0004c0006t0002g0179	4	186	0.0215	14	c.56 others(25): Show c.5602_*5603insTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02145.hp2 HG02559.hp2 others(7): Show HG02056.hp1 HG02145.hp2 HG02559.hp2 HG02809.hp1 NA18612.hp1 NA18942.hp2 NA18955.hp2 NA18982.hp2 NA18994.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0343 others(7): Show a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0343 a0001c0001t0003g0276 a0002c0002t0001g0060 a0002c0002t0001g0065 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0003t0001g0406	10	444	0.0225	14	c.3- others(29): Show c.3-1489_*3-1476dupTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGGGAGAG others(7): Show GGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03942.hp1 HG03239.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0311 a0001c0001t0002g0175 a0001c0001t0002g0311	2	444	0.0045	14	c.3- others(29): Show c.3-1476_*3-1475insTCTCTCTCTCTCCC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02145.hp1 HG02683.hp2 others(9): Show HG01516.hp1 HG02145.hp1 HG02683.hp2 HG02896.hp2 HG03041.hp1 HG03540.hp1 HG04228.hp2 NA18906.hp2 NA18950.hp2 NA18983.hp2 NA19075.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0001g0291 a0001c0001t0001g0303 others(9): Show a0001c0001t0001g0223 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0001t0002g0332 a0001c0001t0002g0387 a0001c0001t0002g0388 a0001c0001t0003g0221	12	444	0.0270	14	c.125 others(29): Show c.125-511_125-498dupATATATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar

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